[Clinical consequences and diagnosis of congenital alpha 1-antitrypsin deficiency].

alpha 1-Antitrypsin deficiency is associated with predisposition to developing liver cirrhosis in early childhood and emphysema in adult life. One of the common variants PiZ leads to accumulation of the abnormal protein in hepatocytes and cell damage. Emphysema is a consequence of the protease-antiprotease imbalance. Understanding of the mechanism of disease allows early diagnostics and therapeutic intervention.